Will he wait for surgery or do they plan to do it after birth? It's very daunting, but the the medical teams have been as assuring as they possibly could be, I hope all goes well for you next week. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. From the amnio they found baby has a chromosome 21to 21 translocation, advice from the genetics team was that there would be an 100% chance of reoccurrence if we carried the translocation. I know of a family who had a false negative. Please whitelist our site to get all the best deals and offers from our partners. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). We are very similar. All rights reserved. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. If it was me I wouldnt chose to have amino or cvs once nipt is negative due to the miscarriage risk and the high accuracy of nipt xx, Hey lovely, it's really tough and it sounds like you've had abad time . Yes, I had a negative NIPT and a birth diagnosis of DS. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. "I ran towards this phone and while I was standing there, shivering in a towel, the doctor told me that my baby had a chance of having Turner Syndrome.". If the result is positive, abnormal or high risk, this means your baby is likely to be affected. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Overall baby was unphased, and it was quick and problem free. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. ", Want help? Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. Basically, this means that there are 3 copies of a chunk of 30 genes on chromosome 4, and to make matters even worse, it is considered a Variant of Unknown Significance (VOUS) because there are no reported cases of individuals with 3 copies of these genes with disorders/defects. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). Turner syndrome is a chromosomal condition that only affects girls. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. Did you get FISH results that confirmed your doctors suspicion? Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Last week I had my NT screening (the ultrasound and bloodwork). They recommended I do the CVS, which I did that same day. We go through life and any manner of things can crop up down the line. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. So many people told me it would most likely be a false positive because I had normal scans. The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! You should do invasive testing before making any decisions. But my NT was elevated at 3.3. , Honestly the thoughts of the amnio wer worse than the actual experience. I am a bot, and this action was performed automatically. PLEASE READ THESE LINKS - this will explain everything. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Im 20 years old Microarray (rare duplication? She is small, but there are short genes in the family. 2005-2023Everyday Health, Inc., a Ziff Davis company. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. In this case I would have a CVS as soon as possible to confirm so you can TFMR. Fascinating! I'm unclear. My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. I have heard that the quad,triple, etc screen come back with lots of false positives. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. She read on the internet about women whose babies had been judged to be at high risk of Turner Syndrome but who had turned out not to have it. First time pregnancy here.Im 32 years old living in Canada. The NT was higher at 3.2 so I opted for a CVS. I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. Right, like the first trimester combined screen or the quad screen. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. so at this rate I'm just waiting for the results from the harmony test .. trying to be patient and we meet with the genetic counselor on Tuesday. And if so , did the nuchal give a positive for Down syndrome or any other need whilst the Nipts said it was negative ?If so which one did you go by ?This is my dilemma. If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. It isn t common practice in regular pregnancy care to have one this early, but you may have one ordered if there are any concerns. The answer was, they didn't do this. Full karyotype came back. The second she was born, I knew and moved on. Now I stick with some support groups on Facebook because while there is sick kids you also see a lot of happy and healthy kids too. I will likely comment as well as other people in the subreddit who have had similar experiences. The only thing that was true? It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. wven when they told me about the soft markers it was with a frown and an im sorry. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! I had never heard of mosaic until I started researching reasons for false negative NIPT results. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Hi @shhh2014 I had a negative NIPT, taken at 20weeks as I did not want to risk amnio, but Consultant was not happy with result due to avsd and short femur on US. Slipping into journalist mode, Claire talked to the laboratory that tested her blood and asked how often they followed up to find out whether a baby given a test result indicating a high risk of Turner Syndrome actually turned out to have it. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. (Harmony) They still can't figure out why. Excellent NT Scan, Positive Blood Results. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. soft matkers are common. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. I had a 25% chance if trisomy 18 on my NIPT with normal NT scans and ultrasounds until 20 weeks when the only marker was an AVSD (hole in the heart). At my 20 week anatomy ultrasound I had 2 soft markers appear. Sometimes there is placental mosaicism (variety of cells in the placenta) that can be different from the babyor the baby can also have a variety of normal and abnormal cells. i know, im just saying people with ds are healthy! On Tuesday I had another scan done and I made them redo the NT measurements and guess what? If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. This post is meant as a welcome and quick information / resources to those who have just found this sub. Im sure your little girl will be delighted to be a big sister! Thank you for your response. But for t13. Her doctor replied that in the US she would have been given four hours of counselling before the test but that in the UK there weren't enough genetic counsellors. Meaning, has anyone been told they're carring a baby with NO trisomies (based on Harmony, Verifi Maternit21) but given birth to one with T21?? Its a very slim chance. At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. I took Harmony early in my pregnancy because Im 36. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. The NIPT test is highly accurate at detecting DS but no test is 100%. We are had amazing care and every scenario has been looked at and covered to give him the best possible recovery from the surgery he will require after birth. For me it was worthwhile to know, but that's a personal call. It's a very slim chance. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Has anyone had a false positive with this test? Has anyone had a false negative NIPT test? ", Analysis by Robert Cuffe, BBC News head of statistics. Ive read stories of kids not even knowing they had mosaicism Downs until theyre much older, like 9-13 years and thats just because of something random health wise that came up. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. If youre still worried, go for the amnio. But this was not the case and I dont like the false hope is helpful. False negatives are a lot rarer. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). Please contact the moderators of this subreddit if you have any questions or concerns. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Yes, I had a negative NIPT and a birth diagnosis of DS. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. hence false negative on nipt through materniT21. I agree with you that in a way I think I would be more confident with an amino but it does carry more risk especially if our babies are healthy and our screening tools just aren't that great. I had a NIPT after a high risk screening result at 12 weeks. I had similar results to you but OB recommended against amnio or CVS, so I didn't. blood test is more accurate. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. You will see this come up in posts across this sub. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which examines the DNA of tiny particles of the placenta circulating in the mother's blood. Ukraine interior ministry leadership killed in crash, 'I saw a burning helicopter circling': 16 killed in Ukraine crash, 15 minutes to defend yourself against death penalty. Your post will be hidden and deleted by moderators. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. False positives are waaaay more common. That being said, we did still have the 1:60 score from the quad, which is worriesome whether we were supposed to see it or not, but after having a clear ultrasound with no soft markers at 18 weeks and no markers at the NT ultrasound combined with the 99.2% reported accuracy of the NIPT, we made a personal decision to decline the amnio. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. Why do I feel pregnant but negative tests? Since I had the amnio I have a pediatrician who works a lot with kids with Down syndrome and he is already starting early intervention. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. Can you share what your third trimester amniocentesis was like? If you continue to use this site we will assume that you are happy with it. Mariegol, why were you given a 1:32 chance? Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. I hope the baby gains weight fast for the heart surgery. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, Use of this site is subject to our terms of use and privacy policy. My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. Hey there, thank you for visiting the sub. I completely understand and my head hasnt stopped spinning. I completely understand about the anxiety it may have caused. My OB says she has not seen it but since this testing is so new the sample size is not huge. Human chorionic gonadotropin (HCG), a hormone made by the placenta Your genetic counsellor will tell you if you are eligible for a genetic test. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. I no longer see that doctor. You got this mama x, Hi. We strive to provide you with a high quality community experience. What is the lowest chance of Down syndrome? Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. There are always chances for the blood tests to be false and apparently even the amniocentesis would have a 300% increase in false positives if doctors allowed everyone to get them, so they screen through age and other characteristics first, then the blood test, and then the amniocentesis to increase the accuracy. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. And when she did, she found that her result might not be as troubling as it seemed. You know that. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. My doctor was confident and reassuring regarding the procedure which was aassive factor. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Please read top 2 pinned posts & automod message for information about the screen and your result. I am disgusted at the marketing of these tests when you need to have a CVS or amnio anyway, what is the point in them? Note that once you confirm, this action cannot be undone. For more information, please see our I have heard that there are rare types of Downs that may be missed and account for the rare false negative. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. Use of this site is subject to our terms of use and privacy policy. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Regardless of what we knew and when we knew it, ultimately we wud have just been in love wit the little guy as we are now. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. Im 13w and 3 days. I would say with a negative test and no strong markers you should be fine getting a define test sounds like it will put your mind at ease and let you enjoy your pregnancy. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Hope that helps a little?? Though for women who have had fertility support, an earlier ultrasound may be done. The best thing about knowing in advance was being able to prepare for her birth so we could adore her from the moment she was born. Trying to take each day as it comes and be positive. At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. Hey there Im so sorry youre here. Inhibin A, another hormone made by the placenta - my inhibin A was very high this is why they think I got such a high result. First time pregnancy here.Im 32 years old living in Canada. VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. Delighted for you that he is doing so well. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. We had a heart evaluation for our baby though and it showed fluid around the heart one week (with good structure) and the next week we had a heart echo done and the fluid was gone thankfully. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. So far his muscle tone is pretty good. We had several soft markers for one of my twin girls, so I looked high and low for anything that would assure me that it didnt mean much. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. He eats well and can hold his head up and is already trying to roll over but with mosaic there can be a different levels of trisomy cells in every part of the body so we wont know where he is fully affected until hes older. Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. "The thought that I could have terminated this pregnancy, that it crossed my mind to terminate, that is" she says, pausing to find the right words. During this difficult time you may be looking information about what the NIPT results you received mean. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Haha sorry I was typing fast on my phone. A negative NIPT equates to roughly a 1 in 70,000 chance. Thanks for your reply! I am now 28 weeks and Im thinking about it but Im not sure. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. It's a hard call, a very individual decision too depending on what the information means for you. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. thank you:) he is doing really well! I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? But that isn't the case for rarer conditions like Turner Syndrome. im glad you see the reality! This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Private clinics and mail-order kits are accessible to anyone willing to pay for themcosts can range from $200 for a kit to thousands of dollars for clinic screenings. Thank you so much for sharing your experience. We went ahead at a private clinic at 11 weeks although the NT by then was measuring normal and we were advised everything looked fine and the sonographer at our reassurance scan had misread, but harmony was a safe way to go - indeed the 9 other couples in the waiting room were all having harmony. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. I had the NIPT test done at 10 weeks and it came back negative for everything, with a 1 in 10,000 chance of Down's. There are a number of potential symptoms, including being short and having fertility problems. It's a very slim chance. I had my AFP blood test done last week and I am worried that the results may come back with positive results but I am going to choose to focus on the Panorama. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. We meet with a specialist on Monday to do an ultrasound to confirm this finding. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. I would try not to worry about it (I know thats easier said than done). We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed.
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